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Case Reports
. 2020 Dec 1;23(12):842-847.
doi: 10.34172/aim.2020.112.

Novel Mutation in LARP7 in Two Iranian Consanguineous Families with Syndromic Intellectual Disability and Facial Dysmorphism

Goli Kazemi  1 , Fatemeh Peymani  1 , Marzieh Mohseni  1   2 , Farzane Zare Ashrafi  1 , Sanaz Arzhangi  1 , Fariba Ardalani  1 , Fatemeh Aghakhani Moghaddam  1 , Kimia Kahrizi  1 , Hossein Najmabadi  1
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Free article
Case Reports

Novel Mutation in LARP7 in Two Iranian Consanguineous Families with Syndromic Intellectual Disability and Facial Dysmorphism

Goli Kazemi et al. Arch Iran Med. .
Free article

Abstract

Background: Recently, we have reported mutations in LARP7 gene, leading to neurodevelopmental disorders (NDDs), the most frequent cause of disability in children with a broad phenotype spectrum and diverse genetic landscape.

Methods: Here, we present two Iranian patients from consanguineous families with syndromic intellectual disability, facial dysmorphism, and short stature.

Results: Whole-exome sequencing (WES) revealed a novel homozygous stop-gain (c.C925T, p.R309X) variant and a previously known homozygous acceptor splice-site (c.1669-1_1671del) variant in LARP7 gene, indicating the diagnosis of Alazami syndrome.

Conclusion: These identified variants in patients with Alazami syndrome were consistent with previously reported loss of function variants in LARP7 and provide further evidence that loss of function of LARP7 is the disease mechanism.

Keywords: Intellectual disability; LARP7; Mutation; Phenotype; Whole exome sequencing.

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